rs12911738

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs12911738(A;G)

Make rs12911738(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40611486

Gene	CASC5, KNL1

is a	snp
is	mentioned by
dbSNP	rs12911738
dbSNP (classic)	rs12911738
ClinGen	rs12911738
ebi	rs12911738
HLI	rs12911738
Exac	rs12911738
Gnomad	rs12911738
Varsome	rs12911738
LitVar	rs12911738
Map	rs12911738
PheGenI	rs12911738
Biobank	rs12911738
1000 genomes	rs12911738
hgdp	rs12911738
ensembl	rs12911738
geneview	rs12911738
scholar	rs12911738
google	rs12911738
pharmgkb	rs12911738
gwascentral	rs12911738
openSNP	rs12911738
23andMe	rs12911738
SNPshot	rs12911738
SNPdbe	rs12911738
MSV3d	rs12911738
GWAS Ctlg	rs12911738

GMAF

0.2994

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs12911738(G;G)
Alt	rs12911738(G;G)
Reference	Rs12911738(A;A)
Significance	Non-pathogenic
Disease	not specified Primary Microcephaly
Variation	info
Gene	KNL1
CLNDBN	not specified Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000015.9:g.40903684A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116567.3, RCV000327262.1,